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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Brooke-Spiegler syndrome
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Accession:DOID:0050693 term browser browse the term
Definition:A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)
Synonyms:exact_synonym: Ancell-Spiegler cylindromas;   BRSS;   BSS;   Brooke-Fordyce trichoepitheliomas;   CYLD cutaneous syndrome;   EAC;   Epithelioma adenoides cysticum of Brooke;   FAMILIAL MULTIPLE TRICHOEPITHELIOMATA;   Familial Trichoepithelioma;   MFT1;   SBS;   Turban tumor syndrome;   Turban tumors;   dermal eccrine cylindroma;   dermal eccrine cylindromas;   familial cylindromatosis;   hereditary multiple benign cystic epithelioma;   multiple familial trichoepithelioma;   multiple familial trichoepithelioma 1
 primary_id: MESH:C536611
 alt_id: OMIM:132700;   OMIM:601606;   OMIM:605041
 xref: GARD:10179;   ORDO:79493
For additional species annotation, visit the Alliance of Genome Resources.


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Brooke-Spiegler syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by OMIM:605041
ClinVar Annotator: match by OMIM:132700
ClinVar Annotator: match by OMIM:601606
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spiegler-Brooke syndrome
OMIM
ClinVar
CTD
PMID:10835629, PMID:12190880, PMID:12950348, PMID:14632188, PMID:15854031, PMID:16307661, PMID:16922728, PMID:18234730, PMID:19807742, PMID:24728327, PMID:28492532 NCBI chr19:19,264,984...19,323,817
Ensembl chr19:19,265,164...19,315,357
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of cellular proliferation 5918
      Hereditary Neoplastic Syndromes 815
        Brooke-Spiegler syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Brooke-Spiegler syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.